Canonical Allele Identifier: CA4195999

Gene: HOXA1

Linked Data

• ClinVar Variation Id: 588681
• ClinVar RCV Id: RCV002313619 ; RCV003953271
• dbSNP Id: rs747464910
• ExAC: 7:27135316 A / ATGGTGG
• gnomAD v2: 7-27135316-A-ATGGTGG
• gnomAD v3: 7-27095697-A-ATGGTGG
• gnomAD v4: 7-27095697-A-ATGGTGG
• MyVariant Identifiers: chr7:g.27135317_27135322dup (hg19) ; chr7:g.27135325_27135326insTGGTGG (hg19) ; chr7:g.27135316_27135317insTGGTGG (hg19) ; chr7:g.27095698_27095703dup (hg38) ; chr7:g.27095706_27095707insTGGTGG (hg38) ; chr7:g.27095697_27095698insTGGTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.27095716_27095721dup , CM000669.2:g.27095716_27095721dup	GRCh38
NC_000007.13:g.27135335_27135340dup , CM000669.1:g.27135335_27135340dup	GRCh37
NC_000007.12:g.27101860_27101865dup	NCBI36
NG_011813.1:g.5304_5309dup
NG_033087.1:g.4623_4628dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000643460.2:c.210_215dup MANE Select	ENSP00000494260.2:p.His72_Arg73insHisHis
ENST00000343060.4:c.210_215dup	ENSP00000343246.4:p.His72_Arg73insHisHis
ENST00000355633.5:c.210_215dup	ENSP00000347851.5:p.His72_Arg73insHisHis
NM_005522.4:c.210_215dup	NP_005513.1:p.His72_His73insHisHis
NM_153620.2:c.210_215dup	NP_705873.2:p.His72_His73insHisHis
NM_005522.5:c.210_215dup MANE Select	NP_005513.2:p.His72_Arg73insHisHis
NM_153620.3:c.210_215dup	NP_705873.3:p.His72_Arg73insHisHis